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Cep164 centrosomal protein 164 [ Mus musculus (house mouse) ]

Gene ID: 214552, updated on 21-Apr-2024

Summary

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Official Symbol
Cep164provided by MGI
Official Full Name
centrosomal protein 164provided by MGI
Primary source
MGI:MGI:2384878
See related
Ensembl:ENSMUSG00000043987 AllianceGenome:MGI:2384878
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
D030051D21
Summary
Predicted to be involved in cilium assembly. Predicted to act upstream of or within DNA repair; cell division; and cell projection organization. Located in 9+2 motile cilium; apical part of cell; and centriole. Part of ciliary transition fiber. Is expressed in several structures, including brain; genitourinary system; gut; respiratory system; and retina. Human ortholog(s) of this gene implicated in nephronophthisis 15. Orthologous to human CEP164 (centrosomal protein 164). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 15.9), placenta adult (RPKM 6.7) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 A5.2; 9 25.1 cM
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (45678244..45739984, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (45766946..45828686, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4833428L15 gene Neighboring gene STARR-seq mESC enhancer starr_24004 Neighboring gene DS cell adhesion molecule like 1 Neighboring gene STARR-seq mESC enhancer starr_24005 Neighboring gene predicted gene, 22069 Neighboring gene STARR-positive B cell enhancer mm9_chr9:45636585-45636886 Neighboring gene STARR-positive B cell enhancer mm9_chr9:45637216-45637517 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:45655339-45655522 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene beta-site APP cleaving enzyme 1 Neighboring gene ring finger protein 214

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. CEP164 is essential for efferent duct multiciliogenesis and male fertility. Hoque M, et al. Reproduction, 2021 Jul 8. PMID 34085951, Free PMC Article
  2. Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys. Airik R, et al. Kidney Int, 2019 Aug. PMID 31248650, Free PMC Article
  3. Deletion of CEP164 in mouse photoreceptors post-ciliogenesis interrupts ciliary intraflagellar transport (IFT). Reed M, et al. PLoS Genet, 2022 Sep. PMID 36074756, Free PMC Article
  4. Embryonic and foetal expression patterns of the ciliopathy gene CEP164. Devlin LA, et al. PLoS One, 2020. PMID 31990917, Free PMC Article
  5. Conditional knockout mice for the distal appendage protein CEP164 reveal its essential roles in airway multiciliated cell differentiation. Siller SS, et al. PLoS Genet, 2017 Dec. PMID 29244804, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CEP164 is essential for efferent duct multiciliogenesis and male fertility.
    Title: CEP164 is essential for efferent duct multiciliogenesis and male fertility.
  2. Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys.
    Title: Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys.
  3. these data support a conserved role for CEP164 throughout the development of numerous organs, which, we suggest, accounts for the multi-system disease phenotype of CEP164-mediated Nephronophthisis-related ciliopathies
    Title: Embryonic and foetal expression patterns of the ciliopathy gene CEP164.
  4. Studies unravel unique requirements for CEP164 in primary versus multiciliogenesis and suggest that CEP164 modulates the selective transport of membrane vesicles and their cargoes into the ciliary compartment in multiciliated cells.
    Title: Conditional knockout mice for the distal appendage protein CEP164 reveal its essential roles in airway multiciliated cell differentiation.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • KIAA1052, MGC38792

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cell division IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in 9+2 motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in apical part of cell IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centriole ISO
Inferred from Sequence Orthology
more info
 PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
part_of ciliary transition fiber IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ciliary transition fiber IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ciliary transition fiber ISO
Inferred from Sequence Orthology
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
centrosomal protein of 164 kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001081373.3 → NP_001074842.2  centrosomal protein of 164 kDa

    Status: VALIDATED

    Source sequence(s)
    AC126804
    Consensus CDS
    CCDS52783.1
    UniProtKB/Swiss-Prot
    Q3TYF9, Q5DU05, Q6NZG6, Q8BQD2, Q8BSI0
    UniProtKB/TrEMBL
    D3YVU3
    Related
    ENSMUSP00000114053.2, ENSMUST00000117194.8
    Conserved Domains (7) summary
    COG1842
    Location:547 → 770
    PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
    pfam00397
    Location:58 → 87
    WW; WW domain
    pfam15619
    Location:738 → 922
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    cd16269
    Location:647 → 658
    GBP_C; coiled coil [structural motif]
    cl07893
    Location:721 → 793
    AmyAc_family; Alpha amylase catalytic domain family
    cl19219
    Location:806 → 900
    DUF342; Protein of unknown function (DUF342)
    cl20817
    Location:556 → 675
    GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    45678244..45739984 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036154821.1 → XP_036010714.1  centrosomal protein of 164 kDa isoform X8

    UniProtKB/Swiss-Prot
    Q3TYF9, Q5DU05, Q6NZG6, Q8BQD2, Q8BSI0
    Conserved Domains (4) summary
    COG1196
    Location:622 → 963
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:825 → 1136
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam02463
    Location:426 → 806
    SMC_N; RecF/RecN/SMC N terminal domain
    pfam00397
    Location:58 → 87
    WW; WW domain

  2. XM_006510140.3 → XP_006510203.1  centrosomal protein of 164 kDa isoform X7

    UniProtKB/Swiss-Prot
    Q3TYF9, Q5DU05, Q6NZG6, Q8BQD2, Q8BSI0
    Conserved Domains (3) summary
    COG1196
    Location:719 → 1060
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:908 → 1233
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam00397
    Location:58 → 87
    WW; WW domain

  3. XM_006510139.3 → XP_006510202.1  centrosomal protein of 164 kDa isoform X6

    Conserved Domains (4) summary
    PHA03247
    Location:325 → 740
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:1076 → 1417
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:1265 → 1600
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam00397
    Location:58 → 87
    WW; WW domain

  4. XM_006510136.3 → XP_006510199.1  centrosomal protein of 164 kDa isoform X3

    Conserved Domains (5) summary
    PHA03247
    Location:325 → 740
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:1175 → 1516
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:1364 → 1689
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam02463
    Location:979 → 1359
    SMC_N; RecF/RecN/SMC N terminal domain
    pfam00397
    Location:58 → 87
    WW; WW domain

  5. XM_006510138.3 → XP_006510201.1  centrosomal protein of 164 kDa isoform X5

    Conserved Domains (5) summary
    PTZ00121
    Location:865 → 1301
    PTZ00121; MAEBL; Provisional
    PHA03247
    Location:325 → 740
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:1124 → 1465
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:1313 → 1648
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam00397
    Location:58 → 87
    WW; WW domain

  6. XM_006510135.3 → XP_006510198.1  centrosomal protein of 164 kDa isoform X2

    Conserved Domains (4) summary
    PHA03247
    Location:325 → 740
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:1223 → 1564
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:1412 → 1737
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam00397
    Location:58 → 87
    WW; WW domain

  7. XM_006510137.3 → XP_006510200.1  centrosomal protein of 164 kDa isoform X4

    Conserved Domains (4) summary
    PHA03247
    Location:325 → 740
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:1173 → 1514
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:1362 → 1687
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam00397
    Location:58 → 87
    WW; WW domain

  8. XM_006510133.1 → XP_006510196.1  centrosomal protein of 164 kDa isoform X1

    See identical proteins and their annotated locations for XP_006510196.1

    UniProtKB/TrEMBL
    A0A1L1SSA4
    Related
    ENSMUSP00000149815.2, ENSMUST00000213154.2
    Conserved Domains (4) summary
    PHA03247
    Location:325 → 740
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:1272 → 1613
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:1461 → 1786
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam00397
    Location:58 → 87
    WW; WW domain

  9. XM_011242446.4 → XP_011240748.1  centrosomal protein of 164 kDa isoform X1

    See identical proteins and their annotated locations for XP_011240748.1

    UniProtKB/TrEMBL
    A0A1L1SSA4
    Conserved Domains (4) summary
    PHA03247
    Location:325 → 740
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:1272 → 1613
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:1461 → 1786
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam00397
    Location:58 → 87
    WW; WW domain

  10. XM_030244219.2 → XP_030100079.1  centrosomal protein of 164 kDa isoform X1

    UniProtKB/TrEMBL
    A0A1L1SSA4
    Conserved Domains (4) summary
    PHA03247
    Location:325 → 740
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:1272 → 1613
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02169
    Location:1461 → 1786
    SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type
    pfam00397
    Location:58 → 87
    WW; WW domain

  11. XM_011242448.1 → XP_011240750.1  centrosomal protein of 164 kDa isoform X9

    See identical proteins and their annotated locations for XP_011240750.1

    Conserved Domains (3) summary
    PHA03247
    Location:325 → 740
    PHA03247; large tegument protein UL36; Provisional
    COG0711
    Location:1248 → 1316
    AtpF; FoF1-type ATP synthase, membrane subunit b or b' [Energy production and conversion]
    pfam00397
    Location:58 → 87
    WW; WW domain

RNA

  1. XR_379109.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5DU05.2 GenPept UniProtKB/Swiss-Prot:Q5DU05

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